Split hand/foot malformations with microdeletions at chromosomes 7 and 19 detected using array comparative genomic hybridization.

The split hand/split foot malformation (SHFM), which is also known as ectrodactyly, is a limb malformation syndrome involving the central rays of the hand or foot. The typical SHFM may present with syndactyly; median clefts of the hands and feet; and aplasia or hypoplasia (or both) of the phalanges, metacarpals, and metatarsals. Numerous human gene defects can cause SHFMs. For example, the SHFM1 gene is associated with deletions of varying extent on chromosome 7q21eq22 [1], whereas SHFM2 is associated with genes localized at Xq26eq26.16 [2]. Previous research has reported multiple types of syndromic or nonsyndromic ectrodactyly [3]. The most common mode of inheritance is autosomal dominant with reduced penetrance. These cases can occur in families or in isolation. Interfamilial variability appears to be significantly greater than intrafamilial variability, which indicates genetic heterogeneity. The syndrome is characterized by various clinical manifestations that vary significantly among affected individuals and generate various combinations. We present a case of “lobster claw hand” observed during a prenatal ultrasound examination. A 21-week pregnant 39-year-old woman (gravida 4, para 1) was referred to our hospital after the detection of SHFM during fetal ultrasound screening (Fig. 1). Ultrasonography at referral confirmed a fetus with SHFM but without any facial or genitourinary anomaly. A review of her birth history showed that her first son had syndactyly of his left hallux